Article
ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
Clinical genetics - 1 Jul 2020
Massadeh Salam, Alhashem Amal, van de Laar Ingrid M B H, Alhabshan Fahad, Ordonez Natalia, Alawbathani Salem, Khan Suliman, Kabbani Mohamed S, Chaikhouni Farah, Sheereen Atia, Almohammed Iman, Alghamdi Bader, Frohn-Mulder Ingrid, Ahmad Salim, Beetz Christian, Bauer Peter, Wessels Marja W, Alaamery Manal, Bertoli-Avella Aida M
Abstract excerpt
Recently, ADAMTS19 was identified as a novel causative gene for autosomal recessive heart valve disease (HVD), affecting mainly the aortic and pulmonary valves. Exome sequencing and data repository (CentoMD) analyses were performed to identify patients with ADAMTS19 variants (two families). A third family was recognized based on cardiac phenotypic similarities and SNP array homozygosity. Three novel loss of...
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